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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:retinitis pigmentosa 1
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Accession:DOID:0110390 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the RP1 gene on chromosome 8q12. (DO)
Synonyms:exact_synonym: RP1;   RP1-RELATED RETINAL DYSTROPHY
 primary_id: MESH:C538365
 alt_id: OMIM:180100


show annotations for term's descendants           Sort by:
retinitis pigmentosa 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 1 ClinVar PMID:17325179 PMID:20029649 PMID:23419329 PMID:23769331 PMID:23982839 More... NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069 		JBrowse link
G Rp1 RP1, axonemal microtubule associated ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:180100
ClinVar Annotator: match by term: RP1-related retinal dystrophy | ClinVar Annotator: match by term: Retinitis pigmentosa 1		 OMIM
CTD
MouseDO
ClinVar		 PMID:1783394 PMID:8931712 PMID:9536098 PMID:10391211 PMID:10391212 More... NCBI chr 5:15,121,104...15,582,363
Ensembl chr 5:15,121,133...15,579,363 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6961
      eye disease 3492
        Hereditary Eye Diseases 1101
          retinitis pigmentosa 601
            retinitis pigmentosa 1 2
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Signs and Symptoms 10821
        Neurologic Manifestations 10055
          sensory system disease 6961
            eye disease 3492
              eye degenerative disease 855
                retinal degeneration 853
                  fundus dystrophy 703
                    retinitis pigmentosa 601
                      retinitis pigmentosa 1 2
paths to the root